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Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription

  • Helena Kilpinen
  • , Sebastian M. Waszak
  • , Andreas R. Gschwind
  • , Sunil K. Raghav
  • , Robert M. Witwicki
  • , Andrea Orioli
  • , Eugenia Migliavacca
  • , Michaël Wiederkehr
  • , Maria Gutierrez-Arcelus
  • , Nikolaos I. Panousis
  • , Alisa Yurovsky
  • , Tuuli Lappalainen
  • , Luciana Romano-Palumbo
  • , Alexandra Planchon
  • , Deborah Bielser
  • , Julien Bryois
  • , Ismael Padioleau
  • , Gilles Udin
  • , Sarah Thurnheer
  • , David Hacker
  • Leighton J. Core, John T. Lis, Nouria Hernandez, Alexandre Reymond, Bart Deplancke, Emmanouil T. Dermitzakis
  • University of Geneva
  • Swiss Institute of Bioinformatics
  • Swiss Federal Institute of Technology Lausanne
  • University of Lausanne
  • Cornell University
  • King Abdulaziz University

Research output: Contribution to journalArticlepeer-review

276 Scopus citations

Abstract

DNA sequence variation has been associated with quantitative changes in molecular phenotypes such as gene expression, but its impact on chromatin states is poorly characterized. To understand the interplay between chromatin and genetic control of gene regulation, we quantified allelic variability in transcription factor binding, histone modifications, and gene expression within humans. We found abundant allelic specificity in chromatin and extensive local, short-range, and long-range allelic coordination among the studied molecular phenotypes. We observed genetic influence on most of these phenotypes, with histone modifications exhibiting strong context-dependent behavior. Our results implicate transcription factors as primary mediators of sequence-specific regulation of gene expression programs, with histone modifications frequently reflecting the primary regulatory event.

Original languageEnglish
Pages (from-to)744-747
Number of pages4
JournalScience
Volume342
Issue number6159
DOIs
StatePublished - 2013

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